T his feature is written in conjunction with Rare Disease Day, observed annually on Feb 28. In recent years, the number of rare diseases recorded in Malaysia has been steadily rising, casting a spotlight on the nation’s healthcare system and the many obstacles faced by patients and their families in securing appropriate treatment. A shortage of specialists, the absence of dedicated referral centres and prohibitively high treatment costs are among the issues most frequently raised. These challenges often leave patients and caregivers feeling isolated and alone as they navigate an already difficult journey.